Treacher Collins Syndrome
What is Treacher Collins Syndrome?
Treacher Collins Syndrome is a genetic, craniofacial birth defect that causes malformation of the head, face and neck. It occurs in 1 of every 10,000 births. Most people affected by Treacher Collins have normal intelligence and normal development.
Treacher Collins is usually not a life threatening syndrome. The life expectancy is the same as the average person. However, some of those affected die in infancy due to jaw malformations which causes breathing difficulties.
What is Treacher Collins Syndrome also known as?
Mandibulofacial dysostosis and Treacher Collins-Franceschetti Syndrome
What are some physical characteristics of Treacher Collins Syndrome?
People with Treacher Collins Syndrome have a very distinct look. Typical physical features include:
*Down slanting eyes
*Notched lower eyelids
*Hearing loss (usually conductive and occurs in 40% of cases)
*Underdevelopment or absence of cheekbones
*Underdevelopment or absence of the side wall and floor of the eye socket
*Lower jaw is often small and slanting
*Wide mouth
*Underdeveloped, malformed and/or prominent ears
*Respiratory problems
*Cleft lip or palate
*Missing or irregularly grown eye lashes
What is the etiology of Treacher Collins Syndrome?
Treacher-Collins is a rare, but complex genetic condition. The pattern of inheritance is autosomal dominant. The affected gene has been identified to the fifth chromosome, which controls facial development. Treacher-Collins results from a mutation of the fifth chromosome. In 40% of cases, Treacher-Collins is passed on through parents.
Scientists are now able to determine if a person with Treacher Collins has it as a new mutation or if it was passed on.
How does Treacher Collins Syndrome affect Communication?
*Facial abnormalities: mandibular and maxillary hyperplasia, malar hypoplasia, and beak-shaped nose which may cause weak jaw and cheek muscles which can affect client’s ability to produce certain phonemes.
*Overt or submucosal cleft palate, high hard palate, short and immobile soft palate, and downward slanting palpebral fissures may lead to cleft palates that may result in inability to create a closure during palatal speech production.
*Coloboma of the lower eyelids which may affect the client’s visual abilities which will affect types of treatment plans.
*Dental malocclusion, hyperplasia of the teeth, and an open bitewich can cause the production of dental phonemes to be inhibited.
*Upper respiratory problems that affect breathing may be present. This may affect the client’s ability to increase the volume or duration of his or her speech.
*Atresia, malformations of the pinnae, and middle ear structural abnormalities may or may not affect the hearing ability of the client.
*Conductive or sensorineural hearing loss will affect what types of lesson plans are used during therapy.
*Early childhood problems with chewing, sucking, and swallowing may lead to lack of strength in the client’s oral mechanism.
*Language-learning problems associated with hearing loss.
*Articulation disorders associated with hearing loss and oral-facial abnormalities.
Example of a Speech and Language Therapy for a hypothetical Treacher Collins Syndrome client
History of Travis T.
*Born prematurely
*Hospitalized for 2 months after birth due to swallowing difficulties and failure to thrive
*Currently 6 months old
*Mother describes Travis as easy-going, placid, and a real “people person”
Impact on Travis T.
Also suffers from:
*Cleft palate
*Micrognathia (small lower jaw)
*Coloboma (gap in eye structure; causes blind spots)
*Hypoplastic malar bones (abnormal growth of maxillae)
*Macrostomia (wide mouth)
*Auditory atresia (absence or closure of the external auditory canal)
*60-70 dB conductive hearing loss
*Family plans for Travis to have surgery to repair his cleft palate, create ear canals, and other maxillofacial surgery as soon as he gains weight and grows physically stronger
*Recently fit with a bone-conduction hearing aid
*Social responses firmly established within motor-turn taking game contexts
*Gross motor and object manipulation skills within normal limits
*He sees well enough to track moving people, but blind spots interfere with visual attending
*Receptive language mildly delayed
*Vocal development severely restricted
Travis T.'s most important communication needs
*Limited and deviant vocal repertoire
*Limited auditory attending and processing skills
*Delayed receptive and expressive language skills
Travis T.'s Therapy Plan
Goal 1.0 Increase attending and processing skills through auditory stimulation to 25% above the baseline over three consecutive sessions.
Objective 1.1 Travis will be able to attend to caregiver by gazing, by using tactile cues when necessary, 3 times a session for 3 consecutive sessions.
Objective 1.2 Travis will be able to attend to a ball being bounced by gazing 3 times a session for 3 consecutive sessions.
Goal 2.0 Increase receptive and expressive language skills to 25% above the baseline over 3 consecutive sessions.
Objective 2.1 Travis will localize caregiver when caregiver speaks to him 3 times in one session, for 3 consecutive sessions.
Objective 2.2 Travis will vocalize (by means of coos, chuckles, VCV) and imitate in response to caregiver’s speech 3 times in one session, for 3 consecutive sessions.
Goal 3.0 Travis will increase his vocal repertoire to 25% above the baseline over three consecutive sessions.
Objective 3.1 Travis will increase his use of any type of vocalization given multi-modalic cueing 3 times in one session, for three consecutive sessions.
Modified Treatment Approach
We were limited to our therapy approach for many reasons:
*Travis’s age
Future surgeries
Vision and hearing problems
We modified our approach by focusing on interactions between Travis and the caregiver, as opposed to Travis and the clinician. Due to his vision and hearing difficulties, a focus on tactile cueing is necessary as well.
Additional Links
The first five links below are the sources for the information provided about Treacher Collins Syndrome. The links following the first five are links to a video of Juliana Wetmore, one of the worst know cases of Treacher Collins Syndrome.
My Sources
The National Craniofacial Association
Amie's Home
Treacher Collins Syndrome
Plastic and Craniofacial Surgery for Infants and Children
Treacher Collins Syndrome: Mandibulofacial Dysostosis
Juliana-Girl born without a Face
Juliana-Would have died in seconds
